split hand-foot malformation 1 with sensorineural hearing loss

Summary
Synonym
  • SHFM1D
  • congenital deafness with split hands and feet
Definition
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
Super Class
autosomal recessive disease split hand-foot malformation
External Links
Disease Ontology
DOID:0090024
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4968 OGG1 8-oxoguanine DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
8809 IL18R1 interleukin 18 receptor 1
55556 ENOSF1 enolase superfamily member 1
Related Glycoprotein

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International Collaboration

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024